Navigating Unexplained Symptoms: A Guide to Possible Vasculitis Diagnosis

I'm not sure where to look?

The patient has experienced abnormal sensations in the left limb for approximately two years and has had persistent hematuria for over three years, although kidney examinations have returned normal results.
There is a mild Raynaud's phenomenon that has lasted for over two years.
The patient is 178 cm tall and typically exercises weekly.
This year, the patient has experienced weight loss, dropping from 73 kg to 66 kg without any changes in exercise or diet.
In May, the patient began to develop widespread pain, itchy hard lumps, red rashes, and petechiae.
Antihistamines initially provided relief, but their effectiveness diminished, leading the patient to seek medical attention in August.

Blood tests conducted when the patient was asymptomatic revealed an ANA titer of 1:640 (DFS), ACA IgG of 25 (+), ESR of 12, eGFR of 77 (previously above 105), and urine hematuria (1+), while other results were normal.
The physician prescribed corticosteroids, which resulted in symptom relief and a decrease in the frequency of flare-ups.
However, around October, the patient suddenly experienced severe vascular pain in both legs and underwent a vascular ultrasound, which revealed peripheral artery occlusive disease (PAOD) in both lower limbs, with dorsalis pedis artery flow velocity at 15 cm/s and atherosclerosis in the lower limb arteries.
The patient was referred to a rheumatology clinic for further evaluation, including ANCA testing and repeat ESR.
The physician noted that the patient does not smoke or drink alcohol, and total cholesterol was only at the borderline level of 206, which raises questions about the presence of atherosclerosis at such a young age.
After three months of corticosteroid treatment, the ESR dropped to 3.
The physician is puzzled by the situation, questioning whether the decrease in ESR indicates that there was indeed an inflammatory process previously.
The current diagnosis remains uncertain, leading to significant concern about whether this could be vasculitis or which direction to pursue for further investigation.

Wuming, 30~39 year old female. Ask Date: 2021/11/23

Dr. Gao Jiankai reply Internal Medicine

Hello, thank you for your inquiry.
Based on your symptoms, I believe it may still be an issue related to immunology or rheumatology.
I recommend that you first visit the immunology and rheumatology department at a medical center, where they can arrange for more detailed examinations.
After the tests, please ask your attending physician about the suspected diagnosis to facilitate the stabilization of your condition.
This will also make it easier for doctors at your local hospital's immunology and rheumatology department to continue your care.
The Changhua Hospital Allergy, Immunology, and Rheumatology Department is here to support you.

Reply Date: 2021/11/23

More Info

Navigating unexplained symptoms can be challenging, especially when they may suggest a complex condition like vasculitis. Based on the symptoms and medical history you've provided, it appears that you are experiencing a range of issues that could potentially be linked to an underlying autoimmune or vascular condition.

Understanding Your Symptoms
1. Prolonged Sensory Abnormalities: The left limb sensory abnormalities you've experienced for two years could indicate nerve involvement, which is not uncommon in autoimmune diseases. Conditions like vasculitis can lead to nerve damage due to inflammation of blood vessels supplying the nerves.

2. Urinary Symptoms: Persistent hematuria (blood in urine) for over three years, despite normal kidney function tests, raises suspicion for glomerulonephritis, which can be associated with systemic vasculitis. It’s crucial to monitor this closely, as it may indicate underlying kidney involvement.

3. Raynaud's Phenomenon: The presence of mild Raynaud's phenomenon for over two years suggests vascular reactivity issues, which can be seen in conditions like systemic sclerosis or lupus. This symptom, combined with your other findings, could point toward a connective tissue disease.

4. Weight Loss and Skin Symptoms: The unexplained weight loss and the development of painful, itchy skin lesions with red spots are concerning. These could be manifestations of systemic inflammation or vasculitis, especially if they are accompanied by systemic symptoms like fever or malaise.

5. Laboratory Findings: The positive ANA (antinuclear antibody) at a titer of 1:640, along with the presence of ACA (anticardiolipin antibodies), suggests an autoimmune process. Elevated ANA levels can be indicative of various autoimmune diseases, including lupus, which can cause vasculitis. The ESR (erythrocyte sedimentation rate) of 12 is within normal limits, but your subsequent drop to 3 after steroid treatment indicates a significant reduction in inflammation, suggesting that there was indeed an inflammatory process at play.

Potential Diagnosis
Given your symptoms and laboratory findings, it is reasonable to consider a diagnosis of vasculitis or another autoimmune condition. The sudden onset of severe pain in the legs and the discovery of peripheral artery disease (PAD) and atherosclerosis at a young age are particularly concerning. These findings suggest that there may be an underlying inflammatory process affecting your blood vessels.

Next Steps
1. Further Evaluation: It may be beneficial to undergo additional testing, such as:
- ANCA Testing: This can help identify specific types of vasculitis, particularly if you have symptoms consistent with ANCA-associated vasculitis.

- Imaging Studies: MRI or CT angiography can provide more detailed information about blood vessel involvement.

- Skin Biopsy: If skin lesions persist, a biopsy may help clarify the diagnosis.

2. Consultation with Specialists: Given the complexity of your symptoms, consider consulting a rheumatologist who specializes in autoimmune diseases and vasculitis. They can provide a comprehensive evaluation and guide further testing and treatment.

3. Monitoring and Management: Continue to monitor your symptoms closely. If you experience worsening pain, new symptoms, or significant changes in your health, seek medical attention promptly.

Conclusion
Your situation is multifaceted, and while it is understandable to feel overwhelmed, it is essential to approach this systematically. The combination of your symptoms, laboratory findings, and response to treatment suggests that there may be an underlying autoimmune process at work. Engaging with a specialist who can navigate these complexities will be crucial in reaching a definitive diagnosis and establishing an effective treatment plan. Remember, early intervention can significantly improve outcomes in autoimmune and vascular conditions.

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